A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644957



Internal ID7031708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:547926..556819hg38UCSC Ensembl
Innerchr20:548426..556319hg38UCSC Ensembl
Outerchr20:546926..557819hg38UCSC Ensembl
chr20:528570..537463hg19UCSC Ensembl
Innerchr20:529070..536963hg19UCSC Ensembl
Outerchr20:527570..538463hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388894
hg198894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16107608, essv16107615, essv16107607, essv16107603, essv16107604, essv16107611, essv16107609, essv16107610, essv16107613, essv16107612, essv16107616, essv16107614, essv16107606, essv16107602, essv16107605
SamplesHG02061, HG02521, HG00451, NA19904, HG00632, HG02187, NA19091, HG00690, NA18543, HG02049, HG00623, HG01798, HG01868, HG00698, HG02020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644957
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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